Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Somatic mosaicism for a mutation in the X-linked PDHA1 gene was found in a girl who presented with manifestations of pyruvate dehydrogenase deficiency. Mutation in the PDHA1 gene was suggested by a mosaic pattern of E1alpha subunit immunostaining; however, initial screening of cDNA and the exons and...

詳細記述

書誌詳細
主要な著者: Ridout, C, Brown, R, Walter, J, Brown, G
フォーマット: Journal article
言語:English
出版事項: 2008